|Institutional Source||Beutler Lab|
|Gene Name||DEAD (Asp-Glu-Ala-Asp) box polypeptide 54|
|Synonyms||2410015A15Rik, APR-5, DP97|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7887 (G1)|
|Chromosomal Location||120612739-120628592 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 120627203 bp|
|Amino Acid Change||Arginine to Cysteine at position 846 (R846C)|
|Ref Sequence||ENSEMBL: ENSMUSP00000031598 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000031598] [ENSMUST00000177908]|
|Predicted Effect||probably damaging
AA Change: R846C
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: R846C
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The nucleolar protein encoded by this gene interacts in a hormone-dependent manner with nuclear receptors, and represses their transcriptional activity. Alternative splice variants that encode different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ddx54||
(F):5'- TGGAAAGCGAGGTCGTAGTC -3'
(R):5'- GGATCTTCCAACAGCACATGG -3'
(F):5'- TCGTAGTCAAGGTGGGCAG -3'
(R):5'- GGACATAGTCCCTGACGTCCAC -3'